Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome

Ana Santos, Leonor Osorio-Almeida, Paul N. Baird, Jorge M. Silva, Maria G. Boavida, John Cowell

Research output: Contribution to journalArticle

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The WT1 gene was analysed using DNA from a Wilms' tumour derived from a patient with the WAGR syndrome using single strand conformation polymorphism analysis and polymerase chain reaction sequencing. A 14-bp insertion was found in the intron part of the splice donor site of exon 7 and was a tandem duplication of an upstream exon sequence. This mutation would be expected to disrupt the correct processing of the WT1 mRNA and is predicted to result in a non-functional protein. This observation further supports the role of WT1 in Wilms' tumorigenesis in patients with constitutional 11p13 deletions.

Original languageEnglish (US)
Pages (from-to)83-86
Number of pages4
JournalHuman Genetics
Issue number1
StatePublished - Aug 1 1993
Externally publishedYes


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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